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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
Duplication
Cushing syndrome
+7 more
GPathogenic
GNAS
(P423H)
Single nucleotide variant
(missense variant +2 more)
McCune-Albright syndrome
+8 more
GBenign/Likely benign
GNAS
(P338Q)
Single nucleotide variant
(missense variant +2 more)
Cushing syndrome
+7 more
GUncertain significance
GNAS
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type 1B
+16 more
GPathogenic
GNAS
(M1V)
Single nucleotide variant
(missense variant +2 more)
Pituitary adenoma 3, multiple types
+8 more
GPathogenic/Likely pathogenic
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